Pediatric researchers report that children with ASD may mistakenly be diagnosed with ADHD because they have autism-related social impairments rather than problems with attention. This is important for understanding what are the right services and treatments for a child.
For the first time, fetal medicine experts have performed prenatal heart surgery to remove a life-threatening tumor, called intrapericardial teratoma. The patient, who underwent the operation at 24 weeks of gestation while in his mother’s womb, is now a healthy three-year-old preschooler.
Hematology researchers have found that blocking the role of a common protein may offer unexpected benefits for patients with the inherited bleeding disorder hemophilia A. The finding offers potential for developing both gene therapy and more effective protein replacement treatments for hemophilia A, the most common form of hemophilia.
Researchers have discovered a gene region that raises the risk a child will have a middle ear infection, known to doctors as acute otitis media—and known to parents as one reason for a screaming, unhappy preschooler. The finding may offer an early clue to helping doctors develop more effective treatments to prevent one of the most common childhood illnesses.
Researchers from 10 autism research centers nationwide will collaborate on a study using new technology to look at the baby teeth of children who have siblings with autism — considered high-risk already — to determine if they’re more likely to develop the disorder if exposed to chemicals in the womb.
An international team of researchers who discovered a new gene disorder that causes severe childhood epilepsy leveraged that finding to reduce seizures in two children. The collaborators’ case report reflects the potential of precision medicine--applying basic science knowledge to individualize treatment to a patient’s unique genetic profile
A world leader in pediatric genomics from The Children’s Hospital of Philadelphia (CHOP) will address a major conference in precision medicine this month, as research and business experts exchange state-of-the-art progress in applying DNA discovery technology to advancing human health. Dr. Hakon Hakonarson will address the inaugural 2016 Advances in Genome Biology (AGBT) Precision Health Meeting on Sept. 22 in Scottsdale, Ariz.
Gene researchers have used sophisticated scientific tools to reveal a new gene for type 2 diabetes at a well-established genomic location. Because this gene codes for a protein that regulates how the body recognizes insulin, that protein may represent an important target for future treatments for the disease.
Children with a history of food allergy have a high risk of developing asthma and allergic rhinitis during childhood as well. The risk increases with the number of food allergies a child might have. Research suggests that U.S. disease rates may be changing for the common childhood conditions asthma, allergic rhinitis and eczema.
When a targeted program to reduce relational aggression among at-risk girls is shared with the entire classroom, the entire class benefits—not just the aggressive girls for whom the program was developed. Pediatric researchers who developed the Friend to Friend program report on new findings in curbing nonphysical aggression among urban schoolchildren.
An international team of researchers has discovered the mutation responsible for a rare, newly identified genetic disorder that causes craniofacial abnormalities and developmental delays. The mutation disrupts normal protein transport within cells, shedding light on a fundamental process in cell biology and early human development. The scientists named the disorder ARCN1-related syndrome.
Hematology researchers have developed a novel genetically engineered clotting factor that can control bleeding in animal models. If the factor proves effective and safe in humans, it may provide a quick-acting countermeasure for surgery patients and others vulnerable to serious bleeding as a result of new blood-thinning drugs.
International experts are gathering this week in northern Italy to exchange information on a multisystem chromosome-based birth defect that is nearly as common as Down syndrome but is little known to the general public and even to many healthcare providers. The disorder, chromosome 22q11.2 deletion syndrome, results from a loss of genetic material on chromosome 22.
Children’s hospitals vary greatly in managing inpatients with asthma, according to researchers who analyzed hospital records in a large national database. Even when patients were grouped by characteristics such as age or severity of illness, hospitals differed significantly in inpatient costs, length of stay, and time spent in the intensive care unit (ICU).
Children covered by Medicaid and equally sick children not covered by Medicaid received essentially similar asthma treatment in a given pediatric hospital, according to a new study. In a national sample, researchers analyzed hospital practice patterns by comparing inpatient costs, lengths of stay and use of the intensive care unit
A quiet transformation has been brewing in medicine, as large-scale DNA results become increasingly available to patients and healthcare providers. Amid a cascade of data, physicians, counselors and families are sorting out how to better understand and use this information in making health care decisions. National experts have issued recommendations for integrating genomics into clinical practice.
Viruses must avoid a host’s immune system to establish successful infections—and scientists have discovered another tool that viruses use to frustrate host defenses. New research demonstrates a novel mechanism by which viruses shut down alarm signals that trigger immune responses. This finding may open the door to future tools for controlling unwanted inflammation in severe infections, cancers and other settings.
Parents of young children diagnosed with autism spectrum disorder (ASD) may experience significant difficulties in discussing treatment options with the child’s pediatrician, according to new research. Among the barriers are problems with communication, physicians’ lack of knowledge about specific ASD treatments and community resources, and uncertainty about the pediatrician’s role in making treatment recommendations for a child with ASD.
Black children who undergo urologic surgery are more likely than white children to have postsurgical complications and hospital-acquired infections 30 days after the surgery. Researchers studying a national database from over 50 U.S. pediatric hospitals suggest that hospitals and policy makers should expand efforts to reduce postoperative adverse events and health disparities in children.
David Rubin, MD, director of PolicyLab, a research center at The Children’s Hospital of Philadelphia, was recently appointed to the United States Department of Defense Military Family Readiness Council (MFRC). The MFRC makes recommendations to the Secretary of Defense about policies and programs around military family readiness--the concept that military families must be well-supported so that service members can focus on their mission.
Exercise, particularly high-impact activity, builds stronger bones in children, even for those who carry genetic variants that predispose them to bone weakness, according to new research.
Researchers suggest that the number of child and youth concussions may be vastly underestimated in the U.S. A single-center study in a large pediatric network found that four out of five children diagnosed with concussion were seen at primary care practices, not in an emergency department (ED). However, most national counts of pediatric concussion rely solely on ED visits or school athletics data.
Douglas C. Wallace, Ph.D., director of the Center for Mitochondrial and Epigenomic Medicine at The Children’s Hospital of Philadelphia, was inducted into the Italian Academy of Sciences during the Academy’s 234th annual meeting on May 5 in Rome. Past members of the Academy have included Einstein, Franklin, Pasteur, Volta, Fermi, and many other internationally renowned scientists.
Synthetic peptides called minihepcidins may potentially treat two serious genetic blood diseases: beta-thalassemia and polycythemia vera. The compounds restored red blood cell levels of red blood cells and controlled iron absorption in animal models.
Babies with a high body mass index (BMI) at age 2 months are at risk for obesity at age 2 years. Pediatric researchers say that BMI better predicts early childhood obesity than weight-for-length, the current standard measurement.
Pediatric researchers have devised an innovative, safe and minimally invasive procedure that helps relieve rare but potentially life-threatening airway blockages occurring in children who had surgery for congenital heart defects.
New research in laboratory animals suggests that the drug palovarotene may prevent multiple skeletal problems caused by a rare but extremely disabling genetic bone disease, and may even be a candidate for use in newborn babies with the condition. A genetic mutation gives rise to the disorder, fibrodsysplasia ossificans progressiva (FOP).
Peter C. Adamson, M.D., a pediatric oncologist at The Children’s Hospital of Philadelphia and Chair of the Children’s Oncology Group, will join other thought leaders in advising the scientific direction and goals of Vice President Joe Biden’s National Cancer Moonshot Initiative. Dr. Adamson is a member of the Blue Ribbon Panel that the National Cancer Institute has announced to help guide that initiative.
Using high-speed DNA sequencing tools, pediatric researchers have identified a new syndrome that causes intellectual disability (ID). Drawing on knowledge of the causative gene mutation, the scientists’ cell studies suggest that an amino acid supplement may offer a targeted treatment for children with this condition.
A physician-researcher at The Children’s Hospital of Philadelphia has received a $1 million Hyundai Quantum Grant from Hyundai Hope on Wheels to advance treatment for a high-risk form of childhood leukemia. The research focuses on immunotherapy—an approach that utilizes a patient’s immune system to better fight off cancer.
Pediatric researchers have found that rare genetic changes strongly increase the likelihood that a child will have higher bone density, but only in girls. Because childhood and adolescence are critical periods for bone formation, these gene variants play an important role in increasing bone strength and reducing vulnerability to fractures later in a woman’s life.
Adults living with congenital heart disease may have a significantly higher risk of post-traumatic stress disorder (PTSD) than people in the general population. Clinicians and caregivers may need to be aware of possible PTSD symptoms, such as anxiety and depression, in their patients.
An international team of scientists has identified novel gene locations associated with childhood body mass index (BMI)—an important measurement related to childhood obesity. This largest-ever genetic study of childhood BMI may offer biological clues to designing future interventions.
Analyzing the immediate neighborhood surroundings of teenaged homicide victims, Philadelphia researchers found that neglected conditions--vacant lots, poor street lighting, fewer parks and less-traveled thoroughfares—were in much greater abundance compared to neighborhoods where adolescents were safer.
A research collaboration that combines novel “big-data” informatics tools with expertise in basic biology has uncovered details of an essential process in life: how a crucial enzyme locates the site on DNA where it begins to direct the synthesis of RNA. The finding may help scientists discover antimicrobial medicines, and shed light on other important cellular processes.
Sophisticated prenatal techniques, not yet in clinical practice, offer the potential to prevent a cruel multi-system genetic disease passing from mother to child long before birth. However, these emerging tools raise ethical and social questions.
Pediatric oncologists from The Children's Hospital of Philadelphia have investigated techniques to improve and broaden a novel personalized cell therapy to treat children with cancer. The researchers say a patient's outcome may be improved if clinicians select specific subtypes of T cells to attack diseases like acute lymphoblastic leukemia and lymphoma.
Oncology researchers have discovered that an abnormal fused gene that drives pediatric brain tumors poses a triple threat, operating simultaneously through three distinct biological mechanisms—the first such example in cancer biology. This finding potentially offers triple benefits as well—more accurate diagnoses, clues for more effective treatments and new insights into molecular processes underlying other types of cancer.
After children with leukemia receive a course of chemotherapy, are they better off remaining in the hospital, or going home with their families? The answer is not obvious, and a pediatric oncologist is leading a multicenter study to investigate both safety and family preferences.
A new scientific center at The Children’s Hospital of Philadelphia aims to harness and broadly share biomedical information to more quickly benefit child patients. The Center for Data Driven Discovery in Biomedicine has the goal of advancing precision medicine—helping to match the most appropriate treatment to individual patients. The center will be the first of its kind with a pediatric focus.
Scientists have identified a gene that appears to play a significant role in raising a person’s risk of having more severe subtypes of autism that co-occur with other genetic diseases, such as the chromosomal disorder 22q11.2 deletion syndrome. Variations in this gene, RANBP1, may disrupt brain signaling in different neuropsychiatric conditions.
Kidney stones are increasing, particularly among adolescents, females, and African-Americans in the U.S., a striking change from the historic pattern in which middle-aged white men were at highest risk for the painful condition. Evidence is limited on how to best treat children with kidney stones.
The Philadelphia Pediatric Medical Device Consortium announces seed grants to two companies developing medical devices for children. The seed grants of $50,000 each, go to one company that aims to reduce pain in a pediatric medical procedure, and to another firm that seeks to reduce unnecessary antibiotic prescriptions.
A new-generation drug has unprecedented potency against neuroblastoma tumors that develop resistance to the anticancer drug crizotinib. A preclinical study supports fast-tracking the agent into pediatric clinical trials this year.
The Children’s Hospital of Philadelphia has chosen Douglas G. Hock as its new executive vice president and chief operating officer (COO), following an extensive national search. Mr. Hock will assume his new duties on Feb. 1.
A new $1.5 million grant to The Children’s Hospital of Philadelphia (CHOP) from Alex’s Lemonade Stand Foundation (ALSF) supports an innovative approach to treating relapsed or refractory neuroblastoma, a high-risk childhood cancer.
Is short stature a problem? In particular, when it does not result from an underlying disease, does it justify giving a child nightly injections of human growth hormone? Researchers shed light on a long-running controversy by focusing directly on parental concerns and decision-making.
Some of the same gene mutations that cause heart defects in children also lead to neurodevelopmental delays, including learning disabilities. New research may later enable clinicians to identify and treat infant heart patients at higher risk for neurodevelopmental problems.
Mitochondria, the tiny structures inside our cells that generate energy, may also play a previously unrecognized role in mind-body interactions. Based on new studies of stress responses in animals, this insight may have broad implications for human psychology and for the biology of psychiatric and neurological diseases.
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